European Neurology · 2000 · 36 citations · 14 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersNeurodegenerative Disease GeneticsNeurodegenerative DiseasesNeurodegenerative DisordersParkinson DiseaseParkinsonian DisordersAlpha-synuclein Gene VariantsAlpha-synuclein MisfoldingNeurodegeneration GeneticsNeurodegenerative GeneticsParkin MutationsParkinson's Disease GeneticsProtective Factor IdentificationSingle-gene Mutations
The role of genetics in Parkinson's disease (PD), previously controversial, is now documented by several studies. A major breakthrough has been the discovery of two single-gene defects in familial PD. A single base pair change at position 209 from G to A (G209A) in the fourth exon of the alpha-synuclein gene has been identified in cases of autosomal dominant familial PD. Mutations in the Parkin gene can induce autosomal recessive juvenile parkinsonism. A polymorphism of R/W366 in the Parkin gene was found to be associated with a protective factor for sporadic PD. We surveyed the polymorphisms of the Parkin gene, including S/N167, R/W366 and V/L380, in 92 cases of sporadic PD and 98 nonaffected individuals in Taiwanese Chinese. The allele frequencies of these polymorphisms are not significantly different between PD and nonaffected controls. We conclude that polymorphisms of the Parkin gene, S/N167, R/W366, V/L380, are not genetic factors for sporadic PD among Chinese in Taiwan.
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Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
Mihael H. Polymeropoulos, Christian Lavedan, Elisabeth Leroy et al. · Science · 1997 · 8.2K citations
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
Tohru Kitada, Shuichi Asakawa, Nobutaka Hattori et al. · Nature · 1998 · 5.2K citations
Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23
Mihael H. Polymeropoulos, Joseph Higgins, Lawrence I. Golbe et al. · Science · 1996 · 782 citations · Full text